Rare Disease Podcasts

#SyngapCensus https://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297 #UFDCure Cannonball - October 4-6 https://www.syngapresearchfund.org/cannonball Effie on CBall https://effieparks.com/podcast/effisode-074-syngap-cannonball-for-a-cure Pre-party https://x.com/UFDTech/status/1709366677261987862   Scramble - October 7, 2023 Stories https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-019 Site https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund   PRAX-222 & ciitizen Marcio https://youtu.be/ibgINIFPFRk?si=Rtxe3rlTUWdMYGvg Pressers 9/20 https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html  10/2 https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-portfolio-update-2023-rd-day    #mustread Essay by Jennifer: https://effieparks.com/blog/2023/9/30/sometimes-there-is-no-silver-lining  Book: https://www.amazon.com/Self-Compassion-Proven-Power-Being-Yourself/dp/0061733520/    Wild Type Campaign https://www.bonfire.com/wild-type-syngap1-1/    Conference - Sign up by Halloween - We need head counts. Registration link: https://Syngap.Fund/Orlando   Hotels: https://Syngap.Fund/2023hotel  Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/  Share your time and blood too!Sign up for ciitizen!Sign up for CHOP! Volunteer! Give us 5 stars everywhere.  Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 118 of #Syngap10 - October 3, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Music credits: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

Show Notes: Julie Miles is an SRF Board Member, Volunteer, and organizes the upcoming event ‘Scramble for SynGAP’ in Traveler’s Rest, SC. Miller, the eldest of her three children with husband Michael, is 8 years old and was diagnosed with SYNGAP1 on July 28, 2020. Ashley talks with Julie about developmental delays, genetic testing, a devastating diagnosis, concerns over self-blame, and the joys of watching Miller enjoy music, baseball, spelling, books, and, of course, swimming! Julie’s SRF Bio WSPA-7 News Video Scramble for SynGAP Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠: ⁠⁠⁠⁠SRF Bio⁠⁠⁠⁠ ⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠ ⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠⁠ SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠⁠ - Ashley Frye SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠⁠ Donate - ⁠⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠ Connect with SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike SynGAP Research Fund Apple Podcast Channel SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠⁠⁠Registration⁠⁠⁠⁠⁠ Wednesday SRF Family Zoom Meeting: ⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: [email protected] Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠ Episode 019 SYNGAP1 Stories, October 3, 2023 #SYNGAP1StoriesMiller #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp19 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Agression #Behavior #Scramble #ScrambleForSyngap #TheCall #Music #Swimming #Baseball #Spelling #Golf #Patience

CALLS TO ACTION Plan on Rare on the Hill - Week of February 25th in DC Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/  Apply for support https://www.surveymonkey.com/r/CJPHMS9   Take this surveySurvey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM  Tweet https://x.com/PedsGCAbby/status/1706446478904811750    Great papers Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders https://x.com/cureSYNGAP1/status/1706770818703953955 Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism models https://x.com/cureSYNGAP1/status/1706772916543893597 Sensorimotor Integration Supporting Perception Requires Syngap1 Expression in Cortex https://x.com/cureSYNGAP1/status/1707475941348540894?s=20   We’re at 248 before the BioRxiv https://x.com/cureSYNGAP1/status/1707516877558501652?s=20    Watch the Epic Stanfield Webinar - Behaviour, Cognition and Sensory Processing in People with SYNGAP1 https://www.syngapresearchfund.org/webinars/82-behaviour-cognition-and-sensory-processing-in-people-with-syngap1    Sign up for the next one 10/26 12PM ET Bryan Dickinson, PhD Webinar on Oligos that target translation to restore SYNGAP1 levels https://www.syngapresearchfund.org/webinars/83-oligos-that-target-translation-to-restore-syngap1-levels    ILAE Interview on MAD https://www.ilae.org/journals/epigraph/epigraph-vol-25-issue-3-summer-2023/research-recap-modified-atkins-diet-and-health-related-quality-of-life-dr-magnhild-kverneland    More Recent Killer Content Elle (Mickey) Sanderson Special Monthly Zoom Meeting on being an advocate; https://www.youtube.com/watch?v=B1sTsYAfaoA  Café SYNGAP1 dropped 2nd episode 9/27 with Juanita Polanco https://www.syngapresearchfund.org/cafe-syngap1-podcast/cafe-syngap1-episode-02 - next episode 10/5 Simons quarterly report (links to summary, full report, video to help understand charts). Sign up https://www.simonssearchlight.org/research/what-we-study/syngap1/    Upcoming Amazing Events Cannonball starts Wednesday 10/4-10/6; Brett, Peter, Monica & Reece (works with Brett) $65,000 in giveaways! Live-stream link will be available soon https://www.syngapresearchfund.org/cannonball Scramble 10/7 Julie Miles in Travelers Rest, SC; she is guest on SYNGAP1 Stories dropping Tues 10/3 - https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund; link to Stories - https://www.syngapresearchfund.org/syngap-stories  Park City Epilepsy Mtg 10/15 - 10/17; Mike & JR 10/18 - Mike keynote at The Enabling Patient Access to Health Data for Actionable Results virtual event by the Office of the National Coordinator for Health Information Technology (ONC) and Centers for Medicare and Medicaid Services (CMS) Gala 10/21 https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund   Conference - Sign up by Halloween - We need head counts.  - Registration link: https://Syngap.Fund/Orlando    - Hotels: https://Syngap.Fund/2023hotel   - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/  Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!  - Volunteer!  - Give us 5 stars everywhere.  Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 117 of #Syngap10 - September 29, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Episodio #02 Bienvenidos de nuevo a Café SynGAP1! En este episodio nos acompaña una invitada especial, Juanita Polanco. Juanita y su hermosa familia son de California con 5 hijas, dos de ellas son mellizas con Syngap1. Juanita nos cuenta sobre los retos, la experiencia y la esperanza que han vivido. Nuestra anfitriona Merlina habla con Juanita sobre el diagnóstico, el tiempo que tomó, los cambios, sin duda llenos de altas y bajas pero que han sido de aprendizaje y amor. Historia de Libby y Espy Bio de ⁠⁠⁠⁠⁠Merlina Información sobre SRF & SYNGAP1:⁠⁠⁠ ⁠Que es SYNGAP1?⁠ ⁠⁠⁠ ⁠ Syngap Research Fund⁠ Donaciones: ⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠ ⁠SYNGAP1 & Epilepsia⁠⁠⁠⁠ ⁠Porque es Importante Obtener un Diagnóstico Genético⁠⁠⁠⁠ ⁠Cómo Obtener Pruebas Genéticas Gratuitas en EEUU⁠⁠⁠⁠ ⁠⁠⁠Planificación Financiera⁠⁠⁠ Futura para las Personas con Discapacidades⁠ Conéctate con SRF (@curesyngap1): Facebook⁠⁠⁠⁠ ⁠⁠⁠⁠Twitter⁠⁠⁠⁠ ⁠⁠⁠⁠Instagram⁠⁠⁠⁠ ⁠LinkedIn⁠⁠⁠⁠ ⁠⁠⁠⁠TikTok⁠⁠⁠⁠ ⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal con Mike Conferencia SYNGAP1 2023, organizado por SRF - ⁠⁠⁠Reservaciones de Hotel⁠⁠⁠ Comentarios: [email protected] Episode 02 Café SYNGAP1, Septiembre 26, 2023 #CafeSYNGAP1 #Syngap #SYNGAP1 #CafeSYNGAP1Charo #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo

ONCE UPON A GENE - EPISODE 199 Navigating as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network Mary McDirmid is a rare mom and Chief Inclusion Officer at Special Abilities Network. She has a passion for advocating for families like ours— families with children who have disabilities and rare diseases. She's here to talk us through the uncomfortable topic of financial and future planning for our rare families.  EPISODE HIGHLIGHTS How do parents approach planning for their children's future when things feel so uncertain? If you don't have the capacity to think about it, the first thing to do is to figure out what you can do to create space and capacity. Triage anything that's causing a lot of stress so you can move from caregiver mode to parent mode.  What's the importance of planning when you have a child with disabilities or rare disease? The importance is that if a child is on any type of state or federal benefit, we want to ensure they keep those benefits. When they turn 18, they're legally an adult and they can only have a certain amount of assets in their name. There's only a couple places we can put money to help them save and not have funds count against their asset limits. It's important to also be able to supplement financial care when you're no longer around. The importance is keeping your child benefit-eligible and to ensure your child is cared for.  What is your advice for parents who don't have the financial resources to save for their child's future? Apply for state benefits and leverage those resources to find funds. Think about other resources such as family members who can contribute. Examine how your family is spending money  and reflect on your personal spending habits to see if there's somewhere to save.   How can families advocate for change around policy and providing better care for our kids? If you're up for the fight, you have the time, and you have the capacity, think about what you want to achieve, be clear in your ask and be prepared to follow up. If you're considering taking something on, ask yourself if the project benefits from your special skill or expertise, if it serves the community you represent, and what / who you want to be held accountable to.  LINKS & RESOURCES MENTIONED Dante Labs https://us.dantelabs.com/ Special Abilities Network https://specialabilitiesnetwork.com/ TSC Alliance https://www.tscalliance.org/ State Disability Resource Guides https://truenorthdisabilityplanning.com/idd-roadmaps TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email ad[email protected] for more information!

Music Credits: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

Sydney & Brett Stelmaszek are heavily involved in the SRF community. Sydney is on the BOD, is a patient advocate, and coordinates our connection with Children’s Hospital of Philadelphia (CHOP). Brett is the driving force behind Cannonball for the Cure (CFTC), an annual fundraiser where SYNGAP1 parents drive cross country live-streaming the entire journey to raise awareness of SYNGAP1. This episode touches on their involvement with SRF as well as raising their son Emmitt, diagnosed with SYNGAP1 while living in South Africa. Their story of excessive seizures, aggression, hope, and love while caring for Emmitt and his two brothers is at times heart-breaking, but always heartwarming. Emmitt’s Warrior Story Eating with Emmitt - Blog Post Flying & Seizing from Africa to Florida - Emmitt's Story Sydney’s SRF Bio Follow Sydney & Brett: Instagram - @UFD_Tech Twitter - @SydneyStel & @UFDTech Facebook - Sydney YouTube - @UFDTech YouTube - Our Syngap Journey More links: Cannonball for the Cure Natural History Study at CHOP SPECIAL WEBINAR: $25M Gift to ENDD for SYNGAP1 and STXBP1 MDBR - Blog Post by Sydney Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠: ⁠⁠⁠SRF Bio⁠⁠⁠ ⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠Facebook⁠⁠⁠⁠⁠ ⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠ SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠ - Ashley Frye SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Syngap Research Fund⁠⁠ - ⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠ Donate - ⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠ Connect with SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠⁠Registration⁠⁠⁠⁠ Wednesday SRF Family Zoom Meeting: ⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: [email protected] Music: ⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠ Episode 018 SYNGAP1 Stories, September 19, 2023 #SYNGAP1StoriesEmmitt #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp18 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Agression #Behavior #Cannonball #CFTC #UFD

Congrats to… - Allen Burke on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne   - Katrien on the ILAE #SYNGAP10 #S10e115    Webinar coming up:   Behaviour, Cognition and Sensory Processing in People with SYNGAP1   Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg   Sept 28 @ 9am PT/ 5pm GMT     Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s    Events to mention in SYNGAP10  - Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike  - 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH!  - Scramble 10/7 Julie Miles https://syngap.fund/scramble   - Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR  - Gala 10/21 Nancy Kessler https://syngap.fund/CLG3   - Conference 11/30 & 12/1 + Sea World or Disney 12/2   Conference - Sign up by Halloween - We need head counts.  - Registration link: https://Syngap.Fund/Orlando    - Hotels: https://Syngap.Fund/2023hotel   - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/  Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!  - Volunteer! Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 116 of #Syngap10 - September 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne   - Katrien on the ILAE #SYNGAP10 #S10e115  Webinar coming up:   Behaviour, Cognition and Sensory Processing in People with SYNGAP1   Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg   Sept 28 @ 9am PT/ 5pm GMT   Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s  Events to mention  - Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike  - 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH!  - Scramble 10/7 Julie Miles https://syngap.fund/scramble   - Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR  - Gala 10/21 Nancy Kessler https://syngap.fund/CLG3   - Conference 11/30 & 12/1 + Sea World or Disney 12/2 Conference - Sign up by Halloween - We need head counts.  - Registration link: https://Syngap.Fund/Orlando    - Hotels: https://Syngap.Fund/2023hotel   - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/  Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!  - Volunteer! Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611  This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 116 of #Syngap10 - September 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)   Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson    Dr. Eschermann's Slides  https://www.patre.info/2023/09/04/presentation-at-iec-2023/ EURAS Project Press Release https://euras-project.eu/   Register for the SRF Conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando    - Hotels ASAP: https://Syngap.Fund/2023hotel    - Merch https://www.bonfire.com/srf-syngap1-conference-2023/  Volunteer with SRF!  - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts:  - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 115 of #Syngap10 - September 17, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat  

Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson  Dr. Eschermann's Slides  https://www.patre.info/2023/09/04/presentation-at-iec-2023/ EURAS Project Press Release https://euras-project.eu/ Register for the SRF Conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando    - Hotels ASAP: https://Syngap.Fund/2023hotel    - Merch https://www.bonfire.com/srf-syngap1-conference-2023/  Volunteer with SRF!  - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts:  - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 115 of #Syngap10 - September 17, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

ONCE UPON A GENE - EPISODE 198 Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody Yssa Dean DeWoody is an incredible advocate and mom, sharing her journey through the intricate world of rare disease advocacy. She unveils the concept of transitioning between the Valerie side, where medical realities are confronted, and the Marie side, where the personal essence of her daughter shines.  EPISODE HIGHLIGHTS Can you share about your connection to the rare disease world? Our journey in the rare disease world started about 18 years ago with the birth of our third daughter, Valerie Marie. At three months old, she started having seizures and she was quickly diagnosed with RING14 Chromosome. We had the opportunity to attend an international family conference and it set us on a path to what it was like to be part of the rare disease community. I was inspired by the research and the idea that I could contribute to the community.  Can you tell us about Valerie Marie and why you're so intentional about differentiating between Valerie and Marie separately? My daughter's full name is Valerie Marie. My family refers to my daughter as Marie. Doctors always referred to her as Valerie. In time, it personified different aspects of my daughter where Marie was my daughter and her personality, her likes and dislikes. Valerie took on the more clinical presentation of her symptoms. If someone called my daughter Valerie, I knew they knew her in a medical sense and I had to create value around her by informing them who she was as a person.  What is your advice for families who want to share their stories effectively with a balance of objectivity and emotion? Whether it's at an IEP meeting at your child's school, a fundraising talk, or a speech at a large conference, it's best to start in the emotional realm with a hook that draws people in. Start with a personal story that invites the audience into your world in a personal way. Transition into a more scripted conversation guided by organized thoughts, clear ideas and a clear ask. It helps to have a clear outline in advance and know what you want out of it.  Can you share why you donated Valerie's brain to research and what the potential impact is on the rare disease community? At a research workshop, several experts emphasized the importance of brain donation in the event of a tragedy. There are so many critical questions with RING Chromosomes that might be answered from Valerie's brain donation. As a leader of the foundation with a heart for research, we chose to honor her life and continue her legacy in a way that could impact the community and inform research strategies.  LINKS & RESOURCES MENTIONED Dante Labs https://us.dantelabs.com/ RING14 USA https://ring14usa.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email ad[email protected] for more information!

Show Notes Victoria Arteaga is the Director of Fondo de Investigación SYNGAP & SYNGAP1 Mom to Amelia. She works endlessly to help the SYNGAP1 community in Latin America & across the globe, attending and presenting at multiple conferences annually. Vicky discusses Amelia’s progress, the joy she brings to the family, a new service dog, SRF’s latest podcast Café SYNGAP1 in Spanish, and the upcoming Second SYNGAP1 Scientific Conference, also in Spanish. Amelia’s Warrior Story⁠ & Instagram Post Vicky’s Bio⁠ Follow Vicky: Instagram - @vickyart78 Instagram Fondo - @syngapamericalatina Twitter - @VickyAArteaga More links: Gomez Family Video (Spanish w/ English subtitles) Brain & Life Interview - Spanish & English Café SYNGAP1 Segundo Congreso Científico Syngap1 en Español Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠: ⁠⁠⁠SRF Bio⁠⁠⁠ ⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠Facebook⁠⁠⁠⁠⁠ ⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠ SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠ - Ashley Frye SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Syngap Research Fund⁠⁠ - ⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠ Donate - ⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠ Connect with SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠⁠Registration⁠⁠⁠⁠ Wednesday SRF Family Zoom Meeting: ⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: [email protected] Music: ⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠ Episode 017 SYNGAP1 Stories, September 12, 2023 #SYNGAP1StoriesAmelia #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp017 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #ServiceDog

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83    Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818  - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687  - Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525   CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdk   ILAE Dublin was a great success -  - Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023 - Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1   Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addison   Conference - Sign up by Halloween - We need head counts.  - Registration link: https://Syngap.Fund/Orlando    - Hotels ASAP: https://Syngap.Fund/2023hotel   - Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Presentations  - Pharma - To follow https://syngap.fund/23    - UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agenda - Sign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/   - It matters, this data is bringing data to companies & making SYNGAP1 more attractive.  SHARE YOUR DATA.  - If you have issues, email Virginie and Mequel.    CANNONBALL 3 is coming!  October 4-6.  Takeover coming soon. - Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012    Share your time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611   This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 114 of #Syngap10 - September 10, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83 Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687 - Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdkILAE Dublin was a great success - - Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023 - Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addisonConference - Sign up by Halloween - We need head counts. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Presentations - Pharma - To follow https://syngap.fund/23 - UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agendaSign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/ - It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA. - If you have issues, email Virginie and Mequel. CANNONBALL 3 is coming! October 4-6. Takeover coming soon. - Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012 Share your time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 114 of #Syngap10 - September 10, 2023#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

ONCE UPON A GENE - EPISODE 197 Rare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and Parenthood Challenges with Dadvocate - Ryan Sheedy Ryan Sheedy is a dadvocate and the Co-Founder of My Mejo. He shares his journey of courage and determination to provide a service for the rare disease community through My Mejo and of being a rare dad.  EPISODE HIGHLIGHTS Can you tell us about your journey as a rare disease dad? My wife and I found out unexpectedly that we were having twins and that has been the theme of our journey-- you can think and prepare for what will happen and then throw it out the window because you're not in control. Reynolds and Campbell are five and a half years old. We weren't aware of complications with the twins, my wife had a scheduled c-section and we were excited to meet our babies. When they were born, it wasn't the joyous moment we imagined experiencing because both babies immediately experienced complications. That began our journey of a lot of unanswered questions, research, praying, hoping and tests.  What was the motivation for starting the My Mejo platform? During the time in the NICU and trying to keep all the information organized and detailing it for sharing, I drafted the idea to solve the problem of remembering everything and connecting the dots. I created a one pager of all Reynolds' key information and I'd provide it to all new providers and therapists. Reynolds was the inspiration for the platform, but I'm inspired daily by the people I get to meet because of the platform. We launched in June 2022 and today we have 1,400 users using the platform across the country.  How does the My Mejo platform work? My Mejo allows you to collect and consolidate all the information you may need into one place and allows caregivers to provide all the information relating to a child to healthcare professionals or other caretakers. We have a section called Getting to Know Me where parents can note personal details that humanize medical encounters. We work on simplicity everyday- on keeping the platform super simple and very useful. Instead of information being scattered across different places, My Mejo allows you to organize information in a format that is easy on the eye in a version that can be downloaded into a .pdf file, journal, playbook or through text or email with controllable access rights. I should also mention that the platform is completely free for families to use. LINKS & RESOURCES MENTIONED Mejo https://www.mymejo.com/ Global Genes 2023 RARE Advocacy Summit https://globalgenes.org/event/rare-advocacy-summit/ Costello Syndrome Family Network  https://costellosyndromeusa.org/ Dante Labs https://us.dantelabs.com/ International Rett Syndrome Foundation https://www.rettsyndrome.org/ My Rett Ally https://myrettally.mymejo.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email ad[email protected] for more information!

Intro music credited to: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music License: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

Super Heroine: Vicky Arteaga Fondo Syngap is tireless: - 2 Congreso en Español on September 23, 2023 https://www.syngapresearchfund.org/professionals/2023-en-espanol Spanish Podcast #CafeSyngap1e01  - YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg - Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw  - Spotify https://spotify.link/MJZZVMoKGCb  - Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1  #FondoSYNGAP SRF is at ILAE - Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6 - Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment  Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani #SyngapStories #KETO #MAD - Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20 - Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet Where have I been all week? - Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016  Soiree was AMAZING- Tweet https://twitter.com/curesyngap1/status/1696595956467183904- Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc Super Heroine: Sydney Stelmazek - CHOP Update - 16 seen so far - 27 signed up - QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20  CANNONBALL 3 is coming!  October 4-6.   Super Heroine: Dr. Danielle Andrade   Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20 Proposals came in today, we need to raise money!Finally, we have at least 6 grant proposals received!  Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate  Share you time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 CONFERENCE  Registration link: https://Syngap.Fund/Orlando   Hotels ASAP: https://Syngap.Fund/2023hotel  Shirts https://www.bonfire.com/srf-syngap1-conference-2023/  Volunteer with SRF! [email protected]  This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:  https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 113 of #Syngap10 - September 2, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

Super Heroine: Vicky Arteaga Fondo Syngap is tireless: - 2 Congreso en Español on September 23, 2023 https://www.syngapresearchfund.org/professionals/2023-en-espanol Spanish Podcast #CafeSyngap1e01  - YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg - Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw  - Spotify https://spotify.link/MJZZVMoKGCb  - Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1  #FondoSYNGAP   SRF is at ILAE - Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6 - Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment    Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani #SyngapStories #KETO #MAD - Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20 - Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet   Where have I been all week? - Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016  Soiree was AMAZING- Tweet https://twitter.com/curesyngap1/status/1696595956467183904- Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc Super Heroine: Sydney Stelmazek - CHOP Update - 16 seen so far - 27 signed up - QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20    CANNONBALL 3 is coming!  October 4-6.     Super Heroine: Dr. Danielle Andrade   Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20   Proposals came in today, we need to raise money!Finally, we have at least 6 grant proposals received!  Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate  Share you time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611   CONFERENCE  Registration link: https://Syngap.Fund/Orlando   Hotels ASAP: https://Syngap.Fund/2023hotel  Shirts https://www.bonfire.com/srf-syngap1-conference-2023/    Volunteer with SRF! [email protected]    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:  https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 113 of #Syngap10 - September 2, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Show Notes Going back to school is difficult for most kids and their families, but for those living with SYNGAP1 and other rare diseases, it is especially hard! Mike Graglia, SRF Co-Founder & Managing Director and Dad to Syngapian Tony, joins Ashley again to talk about a crisis his family experienced on Tony's first day at a new school. It's easy to talk about the joy we experience with our special kids, but it can be gut-wrenching to discuss (and hear about) the hard days. That makes it so important to share these stories - to make sure our community and those around us can prepare for these possibilities to the best of our abilities. Please, if you have a story to share, email us at [email protected]. Thank you for listening! Tony’s Warrior Story Mike Graglia’s Bio Mike & Ashley’s Story SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠Episode 002⁠⁠⁠⁠⁠⁠ - Mike Graglia More links: Jackie Kancir’s Bio Webinar - Severe Behaviors & Advocacy (with Jackie Kancir) Blog Post - Stella Stays In School: Getting Educational Needs Met Blog Post - A Message To The Newly Diagnosed SynGAP-1 Parent Webinar - Your teenager was just diagnosed with SYNGAP1, processing through a new lens Syngap Soirée Ashley’s Soirée Video Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠: ⁠⁠SRF Bio⁠⁠ ⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠ ⁠Facebook⁠⁠⁠⁠ ⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠ SYNGAP1 Stories ⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠ - Ashley Frye SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠What is SYNGAP1?⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠ Syngap Research Fund⁠⁠ - ⁠⁠https://syngapresearchfund.org⁠⁠ Donate - ⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠ ⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠ ⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠ ⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠ Connect with SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠ w/ Mike SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠Registration⁠⁠⁠ Wednesday SRF Family Zoom Meeting: ⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: [email protected] Music: ⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠ Episode 016 SYNGAP1 Stories, August 30, 2023 #SYNGAP1StoriesTony #SynGAP #SYNGAP1 #SYNGAP1Stories #SYNGAP1Stories16 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Keto #School #FirstDayOfSchool #NewSchool

Show Notes Samar Katnani, SRF Volunteer and Mom to 3-year-old Syngapian Reema, talks honestly about medications, sharing your story, self-help, anxiety associated with caring for Reema, fake crying, & much more. As with all SYNGAP1 Stories, this one gets very personal, and will benefit all of us, especially others caring for someone with a rare disease. Thank you for listening! Reema’s Warrior Story More links: ⁠⁠My Reema ⁠⁠Epilepsy Awareness Day is Every Day for Us Now⁠ Augmentative and Alternative Communication (AAC) device Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠: ⁠SRF Bio⁠ LinkedIn⁠⁠⁠⁠⁠⁠⁠ Facebook⁠⁠⁠ Instagram⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠ SYNGAP1 Stories ⁠⁠⁠⁠Episode 001⁠⁠⁠⁠ - Ashley Frye SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠ What is SYNGAP1?⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠ Syngap Research Fund⁠⁠ - ⁠https://syngapresearchfund.org⁠ Donate - ⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠ SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠ Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠ How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠ ⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠ Connect with SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠ w/ Mike SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠Registration⁠⁠ Wednesday SRF Family Zoom Meeting: ⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: [email protected] Music: ⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠ Episode 015 SYNGAP1 Stories, August 22, 2023 #SYNGAP1StoriesReema #MyReema #Syngap #SYNGAP1 #SYNGAP1Stories #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Keto #Grandparents #SelfCare

Episodio #01 Bienvenidos a nuestro nuevo podcast, Café SynGAP1! En nuestro primer episodio, nos acompaña Valeria Torcetta, una invitada especial quien nos habla sobre Charo, su hija con Syngap1, y primera paciente diagnosticada en America Latina y Argentina. Nuestra anfitriona Merlina habla con Valeria sobre lo que ha sido el Syngap1 en la vida de Charo como se han enfrentado a los desafíos, su compromiso y labor incansable por dar a conocer esta patología y promover el diagnostico en Argentina. Historia de Charo Bio de ⁠⁠⁠⁠⁠Merlina Información sobre SRF & SYNGAP1:⁠⁠⁠ ⁠Que es SYNGAP1?⁠ ⁠⁠⁠ ⁠ Syngap Research Fund⁠ Donaciones: ⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠ ⁠SYNGAP1 & Epilepsia⁠⁠⁠⁠ ⁠Porque es Importante Obtener un Diagnóstico Genético⁠⁠⁠⁠ ⁠Cómo Obtener Pruebas Genéticas Gratuitas en EEUU⁠⁠⁠⁠ ⁠⁠⁠Planificación Financiera⁠⁠⁠ Futura para las Personas con Discapacidades⁠ Conéctate con SRF (@curesyngap1): Facebook⁠⁠⁠⁠ ⁠⁠⁠⁠Twitter⁠⁠⁠⁠ ⁠⁠⁠⁠Instagram⁠⁠⁠⁠ ⁠LinkedIn⁠⁠⁠⁠ ⁠⁠⁠⁠TikTok⁠⁠⁠⁠ ⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal con Mike Conferencia SYNGAP1 2023, organizado por SRF - ⁠⁠⁠Reservaciones de Hotel⁠⁠⁠ Comentarios: [email protected] Episode 01 Café SYNGAP1, Agosto 21, 2023 #CafeSYNGAP1 #Syngap #SYNGAP1 #CafeSYNGAP1Charo #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo